ECPAS
protein-codingEcm29 proteasome adaptor and scaffold
Gene summary
Enables proteasome binding activity. Involved in ERAD pathway. Located in several cellular components, including centrosome; cytoplasmic vesicle; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
- KIAA0368
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~124.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ECPAS variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001364929.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 6 | 2 | 8 | |||
| missense | 170 | 3 | 173 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 14 | 14 | ||||
| Total | 0 | 0 | 191 | 5 | 0 | 196 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001351858.1 | 49 | MANE Select | |
| Ensembl | ENSP00000507419.1 | 49 | MANE Select | |
| RefSeq | NP_001350685.1 | 49 | Standard | |
| RefSeq | NP_001351859.1 | 49 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- ubiquitin-dependent ERAD pathway
- proteasome assembly
Molecular Function
- protein binding
- protein-containing complex scaffold activity
- proteasome binding
Cellular Component
- proteasome complex
- nucleus
- early endosome
- late endosome
- multivesicular body
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000259335
- Coding exons
- 51
- Length
- 124054
- Individuals with no LoFs
- 124650
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 16
- Defined
- 124666
- p
- 0.0000642
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.77 | 837 | 994 | 0.842 | 0.0000515 | 12937 |
| Missense (PolyPhen) | 191 | 318.68 | 0.59935 | 4020 | ||
| Synonymous | -0.0169 | 364 | 364 | 1.00 | 0.0000192 | 3984 |
| Loss of Function | 8.72 | 15 | 117 | 0.129 | 0.00000660 | 1415 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00014 | 0.00013 | rare |
| Latino/Admixed American | 0.000058 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00011 | 0.000097 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolyis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity). {ECO:0000250|UniProtKB:Q6PDI5, ECO:0000269|PubMed:15496406, ECO:0000269|PubMed:20682791}.;
Recessive Scores
- pRec
- 0.0843
Intolerance Scores
- RVIS EVS
- -0.03
- RVIS percentile EVS
- 50.58